College of Arts and Sciences
Primary Subject Area
Biology, Anatomy; Biology, General
Ankylosing Spondylitis, AS
Medicine and Health Sciences
Dowlearn, Emily, "A Review of the Molecular and Genetic Foundations of Ankylosing Spondylitis" (2012). Senior Honors Theses. 283.
Ankylosing Spondylitis (AS) is an autoimmune disease that occurs in an adult-onset or juvenile-onset form. The symptoms, severity, and prevalence of this disease vary according to sex, age, and race. AS has been strongly associated with the gene that codes for protein HLA-B27, a protein that misfolds in AS and causes stress on the Endoplasmic Reticulum (ER). The ER then sets off a chain of events leading to the observed AS symptoms. Other mutant genes such as Interleukin 23R (IL23R) and ER Amino Peptidase 1 (ERAP1) have been associated with AS, though not as prominent as HLA-B27. AS is thought to have a genetic basis that accounts for many cases of familial inheritance, though cases have been observed in patients with no family history of AS or with a lack of associated genes. There is much research needed to determine the etiology and map the behavior of Ankylosing Spondylitis.